A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178401



Internal ID21625910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:65836663..65836663hg38UCSC Ensembl
chr6:66546556..66546556hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5687075
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17178401
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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